内皮型一氧化氮合酶基因G894T多态性与老年钙化性心瓣膜病的关系

目的探讨内皮型一氧化氮合酶（eNOS）基因G894T多态性与老年钙化性心瓣膜病（SCVD）的关系。方法采用基因芯片技术测定老年钙化性心瓣膜病的患者（132例）和无瓣膜钙化的对照患者（108例）的eNOSG894T多态性，并对两组检测结果进行基因频率比较，应用二分类logistic回归分析该基因多态性对瓣膜钙化的影响。结果SCVD组GT＋TT基因型、T等位基因频率均明显高于对照组，差异具有统计学意义（基因型c^2=8．486，P=0．004；等位基因c^2=9．425，P=-0．002）；二分类多自变量logistic回归分析显示，eNOS G894T多态性、总胆固醇水平、低密度脂蛋白水平、空腹血糖水平、体质量指数、收缩压水平以及高血压病史、冠心病病史、高血脂病史均与SCVD独立相关，差异有统计学意义（P〈0．05），为SCVD的危险因素。结论eNOSG894T可能是SCVD的遗传易感基因。

Relationship of endothelial nitric oxide synthase G894T polymorphisms and senile calcific valve disease: report of 132 cases

Objective To investigate the relationship between the polymorphisms of endothelial nitric oxide syntheses （eNOS） gene G894T and senile calcific valve disease （SCVD）. Methods Gene chip technique was used to detect eNOS G894T polymorphisms in 132 patients with echocardiography-identified valve degenerative changes but without rheumatic, congenital, or infectious valve diseases in our department from 2010 to 2011. Their age was ranging from 65 to 92 years （mean 79.2 ± 6.3）. Another 108 sex- and age-matched patients without valve degenerative changes or valve disease served as control. The genotype and allele frequency distribution were compared between the 2 groups. Binary logistic regression analysis was used to evaluate the relationship between eNOS G894T polymorphisms and SCVD. Results SCVD group had GT＋TT genotypes and T allele frequency significantly higher than the control group （genotypes c^2=8.486, P=0.004; allele c^2=9.425, P=-0.002）. In Binary logistic regression analysis, eNOS G894T polymorphisms, levels of total cholesterol low density lipoprotein and fasting glucose, body mass index, systolic blood pressure, and histories of hypertension, coronary heart disease and hyperlipidemia were all statistically associated with SCVD （P〈0.05）. Conclusion eNOS G894T may be the predisposing gene of SCVD.